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Article

Exome Evaluation of Autism-Associated Genes in Amazon American Populations

by
Giovana E. da Costa
1,
Giordane L. Fernandes
1,
Juliana C. G. Rodrigues
1,
Diana F. da V. B. Leal
1,
Lucas F. Pastana
1,
Esdras E. B. Pereira
2,
Paulo P. Assumpção
2,
Rommel M. R. Burbano
1,2,
Sidney E. B. dos Santos
1,2,
João F. Guerreiro
2,
Marianne R. Fernandes
1,* and
Ney P. C. dos Santos
1,2
1
Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará, Belém 66075-110, Brazil
2
Laboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém 66075-110, Brazil
*
Author to whom correspondence should be addressed.
Genes 2022, 13(2), 368; https://doi.org/10.3390/genes13020368
Submission received: 22 December 2021 / Revised: 14 January 2022 / Accepted: 19 January 2022 / Published: 18 February 2022
(This article belongs to the Special Issue Progress in Genetics of Autism)
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Abstract

Autism spectrum disorder is a neurodevelopmental disorder, affecting one in 160 children worldwide. The causes of autism are still poorly understood, but research shows the relevance of genetic factors in its pathophysiology, including the CHD8, SCN2A, FOXP1 and SYNGAP1 genes. Information about the genetic influence on various diseases, including autism, in the Amerindian population from Amazon, is still scarce. We investigated 35 variants of the CHD8, SCN2A, FOXP1, and SYNGAP1 gene in Amazonian Amerindians in comparison with publicly available population frequencies from the 1000 Genomes Project database. Our study identified 16 variants in the Amerindian population of the Amazon with frequencies significantly different from the other populations. Among them, the SCN2A (rs17183814, rs75109281, and rs150453735), FOXP1 (rs56850311 and rs939845), and SYNGAP1 (rs9394145 and rs115441992) variants presented higher frequency than all other populations analyzed. In addition, nine variants were found with lower frequency among the Amerindians: CHD8 (rs35057134 and rs10467770), SCN2A (rs3769951, rs2304014, rs1838846, and rs7593568), FOXP1 (rs112773801 and rs56850311), and SYNGAP1 (rs453590). These data show the unique genetic profile of the indigenous population of the Brazilian Amazon. Knowledge of these variants can help to understand the pathophysiology and diagnosis of autism among Amerindians, Brazilians, and in admixed populations that have contributions from this ethnic group.
Keywords: autism; susceptibility; genetic; Amerindians autism; susceptibility; genetic; Amerindians
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MDPI and ACS Style

da Costa, G.E.; Fernandes, G.L.; Rodrigues, J.C.G.; da V. B. Leal, D.F.; Pastana, L.F.; Pereira, E.E.B.; Assumpção, P.P.; Burbano, R.M.R.; dos Santos, S.E.B.; Guerreiro, J.F.; et al. Exome Evaluation of Autism-Associated Genes in Amazon American Populations. Genes 2022, 13, 368. https://doi.org/10.3390/genes13020368

AMA Style

da Costa GE, Fernandes GL, Rodrigues JCG, da V. B. Leal DF, Pastana LF, Pereira EEB, Assumpção PP, Burbano RMR, dos Santos SEB, Guerreiro JF, et al. Exome Evaluation of Autism-Associated Genes in Amazon American Populations. Genes. 2022; 13(2):368. https://doi.org/10.3390/genes13020368

Chicago/Turabian Style

da Costa, Giovana E., Giordane L. Fernandes, Juliana C. G. Rodrigues, Diana F. da V. B. Leal, Lucas F. Pastana, Esdras E. B. Pereira, Paulo P. Assumpção, Rommel M. R. Burbano, Sidney E. B. dos Santos, João F. Guerreiro, and et al. 2022. "Exome Evaluation of Autism-Associated Genes in Amazon American Populations" Genes 13, no. 2: 368. https://doi.org/10.3390/genes13020368

APA Style

da Costa, G. E., Fernandes, G. L., Rodrigues, J. C. G., da V. B. Leal, D. F., Pastana, L. F., Pereira, E. E. B., Assumpção, P. P., Burbano, R. M. R., dos Santos, S. E. B., Guerreiro, J. F., Fernandes, M. R., & dos Santos, N. P. C. (2022). Exome Evaluation of Autism-Associated Genes in Amazon American Populations. Genes, 13(2), 368. https://doi.org/10.3390/genes13020368

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